Two new G gamma chain variants: Hb F-Saint-Etienne [G gamma 79(EF3)Asp-->His] and Hb F-Lyon [G gamma 97(FG4)His-->Arg].
Two new fetal hemoglobin (Hb F) variants affecting the (G)gamma chain are reported: Hb F-Saint-Etienne [G gamma 79(EF3)Asp-->His] and Hb F-Lyon [G gamma 97(FG4)His-->Arg]. These new Hb variants were found during a neonatal screening for hemoglobinopathies but characterized a few months later by our reference laboratory. The corresponding mutations are located on the external part of the Hb molecule and seem to be clinically silent.
Joly
Philippe
P
Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France.
Lacan
Philippe
P
Garcia
Caroline
C
Berger
Claire
C
Perier
Christian
C
Barro
Claire
C
Francina
Alain
A
D005319:Fetal Hemoglobin / Q000235:genetics*; D005820:Genetic Testing; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D055545:gamma-Globins / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D055545:gamma-Globins; C415475:hemoglobin Saint Etienne; D005319:Fetal Hemoglobin